W76* (p.Trp76Ter) variant of IL2RA (P01589)
W76* (p.Trp76Ter) in IL2RA (P01589) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W76* (p.Trp76Ter) variant details
- p.Trp76Ter
- rs2539649661
- ClinGen CA375929933
- ClinVar RCV002881206
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available